| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A new lysosomal storage disorder resembling Morquio syndrome in sibs
|
Perrin, Laurence
|
|
2012
|
55 |
3 |
p. 157-162
6 p.
|
artikel
|
| 2 |
A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability
|
Õunap, Katrin
|
|
2012
|
55 |
3 |
p. 178-184
7 p.
|
artikel
|
| 3 |
A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome
|
Hoefele, Julia
|
|
2012
|
55 |
3 |
p. 211-215
5 p.
|
artikel
|
| 4 |
Clinical and radiological findings in Pallister–Killian syndrome
|
Jamuar, Saumya
|
|
2012
|
55 |
3 |
p. 167-172
6 p.
|
artikel
|
| 5 |
372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment
|
Marseglia, Giuseppina
|
|
2012
|
55 |
3 |
p. 216-221
6 p.
|
artikel
|
| 6 |
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism
|
Belligni, Elga Fabia
|
|
2012
|
55 |
3 |
p. 222-224
3 p.
|
artikel
|
| 7 |
Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy
|
Chanavat, V.
|
|
2012
|
55 |
3 |
p. 163-166
4 p.
|
artikel
|
| 8 |
Novel nonsense mutation of ABHD5 in Dorfman–Chanarin syndrome with unusual findings: A challenge for genotype–phenotype correlation
|
Aggarwal, Shagun
|
|
2012
|
55 |
3 |
p. 173-177
5 p.
|
artikel
|
| 9 |
Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene
|
de Wijn, Robert S.
|
|
2012
|
55 |
3 |
p. 191-195
5 p.
|
artikel
|
| 10 |
2q34-qter duplication and 4q34.2-qter deletion in a patient with developmental delay
|
Rashidi-Nezhad, Ali
|
|
2012
|
55 |
3 |
p. 203-210
8 p.
|
artikel
|
| 11 |
Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes
|
Sorte, Hanne
|
|
2012
|
55 |
3 |
p. 196-202
7 p.
|
artikel
|
| 12 |
Unexpected results in the constitution of small supernumerary marker chromosomes
|
Vetro, Annalisa
|
|
2012
|
55 |
3 |
p. 185-190
6 p.
|
artikel
|
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